A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.

Objective: Rolandic epilepsy is a common genetic focal epilepsy of childhood characterized by centrotemporal sharp waves on electroencephalogram. In previous genome-wide analysis, we had reported linkage of centrotemporal sharp waves to chromosome 11p13, and fine mapping with 44 SNPs identified the ELP4-PAX6 locus in two independent US and Canadian case-control samples. Here, we aimed to find a causative variant for centrotemporal sharp waves using a larger sample and higher resolution genotyping array.

Risk factors for reading disability in families with rolandic epilepsy.

Objective: The high prevalence and impact of neurodevelopmental comorbidities in childhood epilepsy are now well known, as are the increased risks and familial aggregation of reading disability (RD) and speech sound disorder (SSD) in rolandic epilepsy (RE). The risk factors for RD in the general population include male sex, SSD, and ADHD, but it is not known if these are the same in RE or whether there is a contributory role of seizure and treatment-related variables.

Methods: An observational study of 108 probands with RE (age range: 3.

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.

Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation. An associated neuromuscular phenotype has not previously been described in detail. We report on an infant with clinical features suggestive of Vici syndrome and additional sensorineural hearing loss.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members.

Broad-range polymerase chain reaction for the diagnosis of Bartonella henselae endocarditis.

We present a case of subacute bacterial endocarditis in a 10-year-old girl with Di-George syndrome, congenital heart disease, and mild immunodeficiency. She was afebrile at initial presentation but was found to have massive splenomegaly, and signs of congestive heart failure. No causative organism could be identified on routine blood and tissue cultures.

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.

Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy (ADNFLE). Previously, some nAChR mutations have been described that are associated with additional neurological features such as psychiatric disorders or cognitive defects. Here, we report a new CHRNB2 mutation located in transmembrane region 3 (M3), outside the known ADNFLE mutation cluster.